Varaico: Literature-Extracted Genetic Variants

ASXL3

394 papers

RefSeq Summary

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate...

Pfam Domains

HARE-HTHaa 10–81UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 235–360UCSCAsx homology domain

PHD_3aa 2188–2246UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 3

HGNC Previous Symbol

KIAA1713

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030632.3

p.H1201_S1202del2

c.3601_3605del6

Surrounding Variants

1 paper

NM_030632.3

p.V1200fs

c.3598_3599fs

1 paper

NM_030632.3

p.S1199delFs

c.3597delT

1 paper

NM_030632.3

p.L1198*

c.3593T>A

1 paper

NM_030632.3

p.L1198*

c.3593T>G

1 paper

NM_030632.3

p.S1199_D1204delFs

c.3596_3612del17

1 paper

NM_030632.3

p.L1198ins1

c.3592_3593insGAT

5 papers

NM_030632.3

p.E1205*

c.3613G>T

6 papers

NM_030632.3

p.L1212*

c.3635T>A

6 papers

NM_030632.3

p.L1212*

c.3635T>G

1 paper

NM_030632.3

p.S1221F

c.3662C>T

1 paper

NM_030632.3

p.N1224delFs

c.3670_3671delAA

1 paper

NM_030632.3

p.N1224K

c.3672T>A